Article
Fetal phenotype associated with the 22q11 deletion.
American journal of medical genetics. Part A - 1 Nov 2014
Noël Anne-Claire, Pelluard Fanny, Delezoide Anne-Lise, Devisme Louise, Loeuillet Laurence, Leroy Brigitte, Martin Alain, Bouvier Raymonde, Laquerriere Annie, Jeanne-Pasquier Corinne, Bessieres-Grattagliano Betty, Mechler Charlotte, Alanio Elisabeth, Leroy Camille, Gaillard Dominique
Abstract excerpt
The 22q11 deletion syndrome is one of the most common human microdeletion syndromes, with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 deletion is poorly described in the literature. A national retrospective study was performed from 74 feto-pathological examinations. The objectives were to evaluate the circumstances of the 22q11 deletion diagnosis and to describe fetal...
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